Article
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.
Human molecular genetics - 1 Jul 1995
Talbot C C, Avramopoulos D, Gerken S, Chakravarti A, Armour J A, Matsunami N, White R, Antonarakis S E
Abstract excerpt
Six novel polymorphic short sequence repeats were identified and localized on the linkage map of human chromosome 21 by genotyping the CEPH reference pedigrees. One of these markers, the tetrameric (AAAG)n repeat D21S1245, was found to be hypermutable. In the DNAs from lymphoblastoid cell lines o...
Topics
- Alleles
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Female
- Genetic Linkage
- Genetic Markers
- Germ-Line Mutation
- Humans
- Male
- Molecular Sequence Data
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Sequence Analysis, DNA